What Is Autism?
Autism is a severe developmental disability that generally begins at birth or within the first three years of life. It is the result of a neurological disorder that changes the way the brain functions -- causing delays or problems in many different skills from infancy to adulthood. For example, both children and adults with autism usually exhibit difficulties in social interaction as well as in verbal and non-verbal communication. They also tend to be interested in odd, repetitive, or restricted activities. While the majority of autistic children look completely normal, they differ from other children by engaging in perplexing and distressing behaviors.
Why is Autism Called a Spectrum Disorder?
Autism belongs to a collection of developmental disorders known as the autism spectrum disorders (ASDs). A spectrum disorder is a group of disorders with similar features. While one person may have mild symptoms, another might have more severe ones. There also are differences in the nature of the symptoms themselves and when they are likely to first appear.
The three different types of autism spectrum disorders are:
- Autistic disorder (also known as "classic" autism). This is the most common condition among the ASDs. It is marked by major delays in language, difficulties with social interactions, and unusual behaviors. Some people with autistic disorder also have impaired intellectual abilities.
- Asperger syndrome. People with this syndrome display some of the milder symptoms of autistic disorder -- such as social challenges and unusual behaviors. They generally do not have any delays in language or impaired intellectual abilities.
- Pervasive Developmental Disorder - Not Otherwise Specified (PPD-NOS, also referred to as "atypical autism"). Individuals may be diagnosed with PPD-NOS if they meet some of the criteria for either autistic disorder or Asperger syndrome but not all. They typically have milder and fewer symptoms than those with autistic disorder. Symptoms may be limited to problems with language and social interaction.
Who Does Autism Affect?
Autism and other ASDs can be found in people all around the world and among all racial, ethnic, and socioeconomic groups. According to the Centers for Disease Control and Prevention (CDC), between 1 in 100 and 1 in 300 -- with an average of 1 in 150 -- children in the United States have an ASD. The disorder occurs four times more often in boys (usually the first-born) than in girls, with one in every 94 boys diagnosed with autism or another ASD. However, girls with the disorder generally have more severe symptoms and greater intellectual impairment.
As many as 1.5 million Americans today may be affected with autism. Of interest is the fact that more people than ever are being diagnosed with autism or another ASD. Government statistics indicate that the rate of autism is rising between 10 and 17 percent each year. According to the CDC, of the approximately four million infants born every year, 24,000 of them will ultimately be diagnosed as autistic. What accounts for this startling rise? It could be that much of this increase stems from newer (and broader) definitions of ASDs, as well as more targeted efforts at diagnosis. For example, a child who is diagnosed with autism today may have been considered merely "odd" 20 or 30 years ago. But it could also be that there has been an actual increase in the number of people with an ASD. Many experts believe that the explanation is likely to be found in a combination of these factors.
Causes of Autism
Experts are still uncertain about all the causes of autism. In all likelihood, there are multiple causes -- rather than just one. It appears to be that a number of different circumstances -- including environmental, biologic, and genetic factors -- set the stage for autism and make a child more likely to have the disorder.
There is reason to believe that genes play a major role in the development of autism. It has been found that identical twins are more likely to both be affected than twins who are fraternal (not genetically identical). In a family with one autistic child, the chance of having another child with autism is about 5 percent -- or one in 20 -- much higher than in the normal population.
Sometimes, parents or other relatives of an autistic child have mild social impairments (such as repetitive behaviors and social or communication problems) that look very much like autism. Research also has found that some emotional disorders (such as manic depression) occur more often in families of a child with autism.
At least one group of researchers has found a link between an abnormal gene and autism. The gene may be just one of three to five or more genes that interact in some way to cause the condition. Scientists suspect that a faulty gene or genes might make a person more likely to develop autism when there are also other factors present, such as a chemical imbalance, viruses or chemicals, or a lack of oxygen at birth.
In a few cases, autistic behavior is caused by:
- Rubella (German measles) in the pregnant mother
- Tuberous sclerosis (a rare genetic disorder that causes benign tumors to grow in the brain as well as in other vital organs)
- Fragile X syndrome (the most common inherited form of mental retardation)
- Encephalitis (brain inflammation)
- Untreated phenylketonuria (PKU) -- when the body lacks an enzyme needed for normal metabolism
In the past several years, there has been interest in a theory that suggested a link between autism and the use of thimerosal, a mercury-based preservative used in the measles-mumps-rubella (MMR) vaccine. Although mercury is no longer found in childhood vaccines in the United States, some parents still have concerns about vaccinations.
However, many well-done, large-scale studies have now been performed that have failed to show a link between thimerosal and autism. A panel from the Institute of Medicine is now examining these studies. The reports include a large Danish study that concluded that there was no causal relationship between childhood vaccination using thimerosal-containing vaccines and the development of an autism spectrum disorder and a U.S. study looking at exposure to mercury, lead, and other heavy metals. Both the American Academy of Pediatrics and the Centers for Disease Control and Prevention asert that there is no link between autism and the MMR vaccine or any other vaccine.
Other potential causes of autism are environmental toxins, including pesticides and heavy metals such as mercury. Heavy metals are certainly more commonly encountered in the environment now than they were in the past. It may be that people with autism or those at higher risk for developing it are more sensitive than others to these toxins.
All children with autism have problems with:
- Social Interaction - they way they relate to others
- Verbal and Nonverbal Communication
- Repetitive Behaviors or Interests
Infants with the disorder won't cuddle; they avoid eye contact and don't seem to want or need physical contact or affection. They may become rigid or limp when they are held, cry when picked up, and show little interest in human contact. These children don't smile or lift their arms in anticipation of being picked up. They form no attachment to parents and do not show any normal anxiety toward strangers. They do not learn the typical games of childhood, such as peek-a-boo.
As children with autism get older they often have unusual responses to sensory experiences, such as certain sounds or the way objects look. These symptoms can range from mild to severe - and will be different in different children. For instance, a child may find it easy to learn to read, but have trouble in social situations. However, with autism, each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of autism.
Children with autism do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child gets older (between 12 and 36 months) and starts lagging behind other children of the same age.
Some parents report the changes as taking place over a short period of time. They notice that their children suddenly start to reject people, act strangely, and lose language and social skills they had before. In other cases, there is a slowing in the level of progress so that the difference between the child with autism and other children the same age becomes more and more noticeable over a longer period of time.
While a person with autism can have symptoms ranging from mild to severe, about 10% of these children have an extraordinary ability in one area, such as mathematics, memory, music, or art. Such children are known as "autistic savants."
Although there are many concerns about labeling a young child with autism, the earlier the diagnosis of autism is made, the sooner actions to help the child can begin. Evidence over the last 15 years has shown that intensive early intervention in optimal educational settings for at least two years during the preschool years results in improved outcomes in most young children with Autism Spectrum Disorder.2
In order to diagnose autism, medical professionals look at a child's specific behaviors. Some of these behaviors may be obvious in the first few months of a child's life, or they may appear at any time during the early years.
In order to be diagnosed with autism the child must have had problems in at least one of these areas: communication, socialization, or restricted behavior before the age of three.
The diagnosis has two stages. The first stage is a developmental screening during "well child" check-ups. The second stage involves a thorough evaluation by a multidisciplinary team.
The Stages of an Autism Diagnosis
The diagnosis of autism has two stages. The first stage is a developmental screening during "well child" check-ups. The second stage involves a thorough evaluation by a multidisciplinary team.
A "well child" check-up at the doctor should include a developmental screening test. (This test is done to see if the child is developing at a rate that is appropriate for his or her age.) In addition, the parents' own observations and concerns about their child's development is important in helping to screen a child for autism.
Looking at family videotapes, photos, and baby albums can help parents to remember when each behavior first appeared and when the child reached certain developmental milestones.
If a child's doctor sees any of the possible indicators of autism as a result of a screening or a "well child checkup," further evaluation is necessary.
Comprehensive Diagnostic Evaluation
The second type of evaluation must be more detailed in order to make sure the child does, or does not, have autism. This evaluation may be done by a team that includes a psychologist, a neurologist, a psychiatrist, a speech therapist, or other professionals who diagnose children with autism.
Because autism is a complicated disorder, a complete evaluation may involve a number of different types of tests. Professionals will test the child's learning skills, social skills, communication skills, listening responses, body movements, hearing, relationships to people, and more.
Lead screening is also essential for children who remain for a long period of time in the oral-motor stage during which they put things into their mouths. Children with an autistic disorder usually have elevated blood lead levels.
Although parents may have been aware that something was not "quite right" with their child, when a diagnosis of autism is given, it is very upsetting. However, as soon as possible after parents learn that their child is autistic, it is important for them to ask questions and get recommendations on what further steps they should take.
Although the exact cause of autism is not known in most instances, some cases are linked to chemical exposure during pregnancy. Therefore, it is essential to avoid taking any drugs during pregnancy unless the doctor specifically prescribes them. That is especially true for some seizure medications such as valproic acid -- a drug prescribed for the treatment of convulsions, seizures, migraine headache, and bipolar disorders. It also is essential to avoid drinking alcoholic beverages of any kind during pregnancy. Being immunized against rubella (German measles) before becoming pregnant can prevent rubella-associated autism.
Following delivery, there are certain measures that may be helpful in preventing autism. One is early diagnosis and treatment of phenylketonuria (PKU). This is a hereditary disease that is caused by the lack of a liver enzyme required to digest the enzyme phenylalanine. Similarly, early diagnosis and treatment of celiac disease may reduce the risk of a child having autism.
Researchers at the University of Washington in Seattle recently began an innovative study funded by the National Institute of Child Health and Development. The goal is to find out whether autism can be prevented in a specific group of children. Enrolled in the study are infants aged six months or younger with an older sibling diagnosed with autism. They will be part of the first study designed to prevent autism symptoms from developing in children at high risk for the disorder. While the latest research indicates that autism affects as many as one in every 150 American newborns, about one out of every 20 infants who have an older sibling with autism will develop the disorder. This study represents the first attempt to intervene and treat infants who are at risk for autism at the earliest sign of symptoms. One of the study goals is to be able to identify autism as early as possible before more obvious symptoms show up. That allows health care professionals to become involved and begin treatment while the connections in a child's brain are still responsive enough.
Health Problems in Autistic Children
Different children with autism have different reactions and problems at different levels. Here are some of the problems that frequently accompany autism:
A great number of children with autism are highly aware of, or even painfully sensitive to, certain sounds, textures, tastes, and smells. Some children find the feel of clothes touching their skin almost unbearable. Some sounds -- a vacuum cleaner, a ringing telephone, a sudden storm, even the sound of waves lapping the shoreline -- will cause these children to cover their ears and scream.
In autism, the brain seems unable to balance the senses appropriately. Some children don't seem to notice extreme cold or pain. One child with autism may fall and break an arm, yet never cry. Another may scream with alarm when lightly touched.
Many children with autism have some mental dysfunction. When tested, some areas of ability may be normal, while others may be especially weak. For example, a child with autism may do well on the parts of the test that measure visual skills but earn low scores on the language portion.
One in four children with autism will develop seizures, which often start either in early childhood or when they become teenagers. 5 Seizures, caused by abnormal electrical activity in the brain, can produce a temporary loss of consciousness (a "blackout"), a body convulsion, unusual movements, or staring spells. Sometimes a contributing factor is a lack of sleep or a high fever. An EEG (electroencephalogram -- a recording of the electric currents developed in the brain by means of electrodes applied to the scalp) can help confirm the seizure's presence.
In most cases, seizures can be controlled by a number of medicines called "anticonvulsants." The dosage of the medication is adjusted carefully so that the least possible amount of medication will be used to be effective.
Treatment for Autism?
There is no single best treatment package for all children with autism. However, most professionals agree that early treatment is important and that most poeple with autism respond well to highly structured, specialized programs.
Before making decisions about a child's treatment, parents should learn as much as possible about the different options that are available. Some of the questions parents can ask about programs for their children include:
- How successful has the program been for other children with autism?
- How many children have been placed in a regular school and how have they performed?
- Do staff members have training and experience working with children and adolescents with autism?
- How are activities planned and organized?
- Are there regular daily schedules and routines?
- How much individual attention will my child receive?
- How is progress measured? Will my child's behavior be closely observed and recorded?
- Will my child be given tasks and rewards that are personally motivating?
- Is the environment designed to minimize distractions?
- Will the program prepare me to continue the therapy at home?
- What is the cost, time commitment, and location of the program?
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